COACH syndrome

Preferred Label : COACH syndrome;

CISMeF synonym : cerebellar vermis Hypo/Aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis;

MeSH synonym : Cerebellar vermis hypo-aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis; Cerebellar Vermis Hypo-Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis;

Détails

Origin ID

C536430;

UMLS CUI

C1857662;

Automatic exact mappings (from CISMeF team)
- COACH syndrome [DO Concept]
- Joubert syndrome with hepatic defect [ICD-11 More detail]
CISMeF manual mappings
- Joubert syndrome with congenital hepatic fibrosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- COACH syndrome [PASCAL descriptor]
- COACH syndrome [Disease (Nov.)]
- Coach syndrome 1 [OMIM Phenotype]
- Joubert syndrome with hepatic defect [ORDO Disease]
DO Cross reference
- COACH syndrome [DO Concept]
Has phenotype(s) (HPO)
- Hypo/aplastic vermis [HPO term]
- Upturned nose [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- ataxia [MeSH Descriptor]
- brain [MeSH Descriptor]
- cholestasis [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- liver diseases [MeSH Descriptor]
Record concept(s)
- COACH syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- COACH syndrome [PASCAL descriptor]
- COACH syndrome [Disease (Nov.)]
- COACH syndrome [DO Concept]
- Coach syndrome 1 [OMIM Phenotype]
- Joubert syndrome with congenital hepatic fibrosis (disorder) [SNOMED CT concept]
- Joubert syndrome with hepatic defect [ORDO Disease]

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